Product Details

SNP ID

rs146217804

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:50182615 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCTGCGGGCGTTCCTGGAGAAAG[C/T]GCGCCAGACGCCACACAAGCCTTTT

Phenotype

MIM: 609123 MIM: 603247

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP8B4 PubMed Links

Gene Details

Gene

ATP8B4

Gene Name

ATPase phospholipid transporting 8B4 (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024837.3	420	Intron			NP_079113.2
XM_011522046.2	420	Intron			XP_011520348.1
XM_011522047.2	420	Intron			XP_011520349.1
XM_011522048.1	420	Intron			XP_011520350.1
XM_011522049.2	420	Intron			XP_011520351.1
XM_011522051.2	420	Intron			XP_011520353.1
XM_011522052.2	420	Intron			XP_011520354.1
XM_011522053.1	420	Intron			XP_011520355.1
XM_011522056.2	420	Intron			XP_011520358.2
XM_011522058.2	420	Intron			XP_011520360.1
XM_011522059.1	420	Intron			XP_011520361.1
XM_011522060.1	420	Intron			XP_011520362.1
XM_011522061.1	420	Intron			XP_011520363.1
XM_011522062.1	420	Intron			XP_011520364.1
XM_011522063.1	420	Intron			XP_011520365.1
XM_011522064.1	420	Intron			XP_011520366.1
XM_011522069.2	420	Intron			XP_011520371.1
XM_011522070.1	420	Intron			XP_011520372.1
XM_017022587.1	420	Intron			XP_016878076.1
XM_017022588.1	420	Intron			XP_016878077.1
XM_017022589.1	420	Intron			XP_016878078.1
XM_017022590.1	420	Intron			XP_016878079.1
XM_017022591.1	420	Intron			XP_016878080.1
XM_017022592.1	420	Intron			XP_016878081.1
XM_017022593.1	420	Intron			XP_016878082.1
XM_017022594.1	420	Intron			XP_016878083.1
XM_017022595.1	420	Intron			XP_016878084.1
XM_017022596.1	420	Intron			XP_016878085.1
XM_017022597.1	420	Intron			XP_016878086.1
XM_017022598.1	420	Intron			XP_016878087.1
XM_017022599.1	420	Intron			XP_016878088.1

Gene

SLC27A2

Gene Name

solute carrier family 27 member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001159629.1	420	Missense Mutation	GCG,GTG	A63V	NP_001153101.1
NM_003645.3	420	Missense Mutation	GCG,GTG	A63V	NP_003636.2

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